Everything You Need To Know About Prenatal Testing

Everything You Need To Know About Prenatal Testing

A woman who is pregnant is entering a dramatic new phase of life. Understandably, this event may trigger a range of emotions, from joy and excitement to worry and anxiety. The joys of pregnancy may include the anticipation of meeting one's baby, the joy of feeling the baby move, and the satisfaction of completing a successful pregnancy. The worries of pregnancy may include the fear of miscarrying, the fear of complications during childbirth, the concern that something may be wrong with the baby, and the overarching concern about how a person will take to parenthood. It is, therefore, important for pregnant women to have as much information as possible to be prepared for whatever comes during the course of the pregnancy.

This is the central role of prenatal testing during pregnancy. Prenatal testing provides pregnant women with in-depth information about the progress of their pregnancy and the health of the baby. Prenatal testing is important for all pregnant women because it can help to diagnose any potential health problems that may be present in the fetus that can be remediated at its earliest stages. It can also provide information about the baby's sex and whether or not they are likely to have certain genetic conditions. Most crucially, prenatal testing can help parents make informed decisions about the pregnancy and their child's future health.

Early Detection For Early Intervention

Prenatal testing can detect birth defects and chromosomal abnormalities which can occur due to genetic causes or environmental ones. With early detection, women can make better decisions about protecting their health and that of their unborn child.

There are two main types of prenatal tests; screening and diagnostic tests. Screening tests can tell a woman her risk of having a baby with a specific condition, but they cannot diagnose the condition. Diagnostic tests can confirm or rule out the presence of certain conditions or birth defects. In the United States, about 85% of pregnant women have at least one screening test, and nearly 70% have at least one diagnostic test.

Genetics plays a major role in the developing fetus, and prenatal testing is vital for making decisions about how to manage the pregnancy with new information. For instance, early detection of fetal anomalies through prenatal ultrasonography allows parents time to prepare emotionally and financially for their child's birth and plan for future medical care needs. In some cases, early identification of a problem through prenatal testing may lead to improved outcomes if interventions are possible before birth (e.g., in utero surgery). A Cochrane review found that pregnant women who were offered first trimester combined screening were more likely to have a healthy pregnancy and live births than those who were only offered second-trimester testing.

Environmental factors can also have a significant impact on outcomes. For instance, a woman who smokes during pregnancy is a major risk factor for adverse birth outcomes, including low birth weight, preterm delivery, and stillbirth; therefore, quitting smoking before or during pregnancy can greatly improve maternal and child health outcomes. Or, abuse during pregnancy is associated with an increased risk of adverse birth outcomes, so identifying women at risk through prenatal screening can help prevent these outcomes.

The Right Tests At The Right Time - Methods of Prenatal Testing

Prenatal testing is generally recommended for all pregnant women, especially those who are over the age of 35 or have a family history of genetic disorders. As a pregnancy progresses, different tests can detect various anomalies.

One of the first tests a woman is likely to do is a pregnancy test. These tests work by detecting the hormone hCG in your urine. If the test is positive, a woman will need to follow up with a healthcare provider to confirm the pregnancy and discuss the next steps. With a confirmed pregnancy, women are likely to have several appointments with a healthcare provider to monitor the baby's health. These appointments will usually include a physical exam, urine test, and blood tests to check for anemia, Rh factor, and the woman's blood type. It is also likely a woman will have an ultrasound around 6-8 weeks gestation to confirm the pregnancy and due date, and again at 18-20 weeks to check for any abnormalities.

Here are the most common tests many women will experience during their pregnancy:

  1. Blood Tests: Blood tests can be used to check for various conditions or infections that could potentially harm the baby, such as HIV or syphilis. They can also be used to determine the mother's blood type to prevent complications during childbirth.
  2. Chromosomal Testing: This type of testing can be used to detect chromosomal abnormalities such as Down syndrome. It is often recommended for women who are over 35 years old or have a family history of genetic disorders.
  3. Amniocentesis: Amniocentesis is a procedure in which a small amount of amniotic fluid is removed from the womb and tested for chromosomal abnormalities or other problems with the baby's development. It carries a small risk of miscarriage, so it is usually only performed if there is an increased risk for problems.
  4. Ultrasound: An ultrasound uses sound waves to create an image of the developing baby inside the womb. It can be used to determine things like the baby's gender, size, and position and look for any birth defects or problems with how the organs are developing.
  5. Doppler Flow Studies: A Doppler flow study uses sound waves to measure blood flow through the umbilical cord and placenta. It can help doctors assess whether or not there is adequate blood flow to the fetus and identify any potential risks for complications during pregnancy or delivery.
  6. Non-Stress Test (NST): An NST monitors fetal heart rate in response to movements made by the baby. It can help assess fetal wellbeing and provide information about how likely it is that labor will need to be induced early due to concerns about fetal distress.
  7. Biophysical Profile (BPP): A biophysical profile combines an ultrasound with an NST to give a more comprehensive assessment of fetal health. In addition to monitoring heart rate, it also looks at factors like breathing movements, muscle tone, and movement of extremities.
  8. Contraction Stress Test (CST): A contraction stress test monitors how well the uterus contracts during times when contractions would typically occur (usually late in pregnancy). It helps assess whether or not there are any problems with uterine function that could potentially impact labor or delivery negatively.
  9. Chorionic villus: This test involves taking a small sample of the placenta and testing it for genetic conditions.
  10. Fetal echocardiography: This uses ultrasound to get a picture of the baby's heart and look for any birth defects.
  11. Fetal MRI: This uses magnetic resonance imaging to get a picture of the baby's brain and look for any congenital disabilities.

The Benefits of Prenatal Tests

Prenatal genetic testing can help couples assess their risk of having a child with certain genetic conditions, and with an earlier diagnosis, treatments may be available for conditions. The advances in prenatal testing are best done with genetics counselors or other medical professionals to ensure they understand the information associated with the test as well as understanding the risks associated with different tests. This is vital since prenatal testing is not without ambiguous results, including false-positive results that may cause unnecessary anxiety or concern and false-negative results that may give parents a false sense of security or, in very rare situations, an accidental impact on the developing fetus.

Once a pregnancy is confirmed, there are a variety of prenatal tests available dependent on the age of the mother, genetic history of both parents, and environmental factors which can have an adverse effect on the unborn baby. Some of the prenatal tests determine if the unborn baby has some growth anomalies such as:

  1. Congenital heart defects
  2. Down syndrome or Tay-Sachs disease
  3. Neural tube defects (when the spinal cord does not develop properly), which can lead to spina bifida.
  4. Cystic fibrosis
  5. Identifying pregnant women who are carriers of the sickle cell trait

Prenatal genetic counseling can help parents make informed decisions about the impacts of continuing the pregnancy will be with these types of diseases. More important, women who receive early prenatal care are more likely to have healthier pregnancies and babies with fewer health problems than those who do not receive early care.

This is why there are a variety of prenatal tests available, and the specific tests recommended for a pregnant woman may vary depending on her age. For example, older women (35 years and older) are at increased risk for chromosomal abnormalities such as Down syndrome, so that they may be offered more extensive testing than younger women. Additionally, because older women have a higher risk of complications during pregnancy and childbirth, they may also be offered more frequent monitoring throughout pregnancy.

The Risks of Prenatal Testing

Prenatal testing is a vital way to ensure the health and wellbeing of both mother and child during pregnancy. There are many different types of prenatal tests available, each with its own unique benefits. However, like most medical testing, there are potential risks and disadvantages associated with prenatal testing, which can include physical risks, emotional risks, false positives, and false negatives.

Physical risks associated with some types of prenatal testing (such as amniocentesis) may include miscarriage or preterm labor. These risks are typically small, but they are still a concern for expectant parents. Emotional risks can also be significant. Prenatal testing can sometimes result in difficult decisions about whether or not to continue a pregnancy. Parents may also experience anxiety or guilt regardless of the test results. False positives (when a test indicates there is a problem when there isn't one) and false negatives (when a test says everything is fine when there actually is a problem) are both possible with prenatal testing. This can lead to unnecessary worry or complacency, respectively.


Overall, it's important to weigh the potential risks and benefits of any prenatal tests before making a decision about whether or not to have them done. Every family will have different concerns and preferences regarding this issue. Prenatal testing is vital because it can give expectant parents information about their baby's health before birth. It can also help them make informed decisions about their pregnancy and their baby's future. Prenatal testing can detect genetic conditions, birth defects, and other health problems. It can also tell parents if their baby is at risk for certain diseases or conditions. This information can help parents make decisions about their pregnancy and their baby's future.

In fact, partly due to prenatal testing, infant mortality in the United States has made great strides since 1950. In that year, the infant mortality rate was 26.0 deaths per 1,000 live births. Today, it's 5.8 deaths per 1,000 live births – a decrease of 80%. While there are several reasons for this dramatic decrease, including improved medical care for pregnant women and newborns, prenatal testing has contributed to the dramatic reduction in infant mortality. With prenatal testing, new medical technologies have been able to address specific issues while the fetus is still in the uterus.

Together, better medical care, better prenatal testing, and advanced therapies have all contributed to lower preterm deliveries, higher birth weights, fewer babies in neonatal care, and less risk of life-threatening illnesses in the first year of a baby's life. Despite the potential risks and distress, on balance, prenatal testing offers women a better chance for a healthy pregnancy, healthy delivery, and healthy baby.

"Prenatal testing is one of the most important tools we have to ensure a healthy pregnancy and a healthy baby. By identifying problems early, we can often take steps to prevent or treat them, which leads to healthier babies, healthier moms, and healthier families." - Pedram Shojai, OMD; Editor-In-Chief.